Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
Tucker, Elena J., Rius, Rocio, Jaillard, Sylvie, Bell, Katrina, Lamont, Phillipa J., Travessa, André, Dupont, Juliette, Sampaio, Lurdes, Dulon, Jérôme, Vuillaumier-Barrot, Sandrine, Whalen, Sandra,Journal:
Human Genetics
DOI:
10.1007/s00439-020-02176-w
Date:
May, 2020
File:
PDF, 1.89 MB
2020
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